THE UTILITY OF SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS - RESULTS OBTAINED IN FAMILIES WITH FABRYS-DISEASE

Single-strand conformation polymorphism (SSCP) analysis is a widely us ed and relatively simple method for detection of sequence polymorphism s in DNA fragments. We have used this technique to screen the alpha-ga lactosidase gene, with the aim of identifying the disease causing muta tions in families with Fabry's disease. Five single-base shift mutatio ns were found, but a single base-pair deletion could not be recognized by SSCP. The risk of mistaking a neutral polymorphism for a mutation is illustrated, and the utility as well as the limitations of SSCP in screening and diagnostic use are discussed.